R110C (p.Arg110Cys) variant of NOTCH3 (Q9UM47)
R110C (p.Arg110Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- rs775836288
- ClinGen CA404534748
- ClinVar RCV000516674
- ClinVar RCV000990179
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.76
- CADD 23.90
- PolyPhen-2 0.86
- SIFT 0.14
- ClinVar: Pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Population evidence available
- Structural context available
- Cited in: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)
- Cited in: Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. (PMID 11102981)